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2004
Harvey, K. and Duguid, I.C. and Alldred, M.J. and Beatty, S.E. and Ward, H. and Keep, Nicholas H. and Lingenfelter, S.E. and Pearce, B.R. and Lundgren, J.D. and Owens, Max J. and Smart, T.G. and Luscher, B. and Rees, M.I. and Harvey, R.J. (2004) The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. The Journal of Neuroscience 24 (25), pp. 5816-5826. ISSN 0270-6474.
September 2008
Harvey, R.J. and Topf, Maya and Harvey, K. and Rees, M.I. (2008) The genetics of hyperekplexia: more than startle! Trends in Genetics 24 (9), pp. 439-447. ISSN 0168-9525.
15 July 2010
Kumar, R.A. and Pilz, D.T. and Babatz, T.D. and Cushion, T.D. and Harvey, K. and Topf, Maya and Yates, L. and Robb, S. and Uyanik, G. and Mancini, G.M.S. and Rees, M.I. and Harvey, R.J. and Dobyns, W.B. (2010) TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics 19 (14), pp. 2817-2827. ISSN 0964-6906.
June 2012
Gill, J.L. and James, Victoria M. and Carta, E. and Harris, D. and Topf, Maya and Scholes, S.F.E. and Hateley, G. and Harvey, R.J. (2012) Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom. Animal Genetics 43 (3), pp. 267-270. ISSN 0268-9146.
April 2013
James, Victoria M. and Bode, A. and Chung, S.-K. and Gill, J.L. and Nielsen, M. and Cowan, Frances M. and Vujic, M. and Thomas, R.H. and Rees, M.I. and Harvey, K. and Keramidas, A. and Topf, Maya and Ginjaar, I. and Lynch, J.W. and Harvey, R.J. (2013) Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. Neurobiology of Disease 52 , pp. 137-149. ISSN 0969-9961.
December 2013
Ganser, L.R. and Yan, Q. and James, Victoria M. and Kozol, R. and Topf, Maya and Harvey, R.J. and Dallman, J.E. (2013) Distinct phenotypes in zebrafish models of human startle disease. Neurobiology of Disease 60 , pp. 139-151. ISSN 0969-9961.
3 September 2015
Stödberg, T. and McTague, A. and Ruiz, A.J. and Hirata, H. and Zhen, J. and Long, P. and Farabella, Irene and Meyer, E. and Kawahara, A. and Vassallo, G. and Stivaros, S.M. and Bjursell, M.K. and Stranneheim, H. and Tigerschiöld, S. and Persson, B. and Bangash, I. and Das, K. and Hughes, D. and Lesko, N. and Lundeberg, J. and Scott, R.C. and Poduri, A. and Scheffer, I.E. and Smith, H. and Gissen, P. and Schorge, S. and Reith, M.E.A. and Topf, Maya and Kullmann, D.M. and Harvey, R.J. and Wedell, A. and Kurian, M.A. (2015) Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nature Communications 6 , p. 8038. ISSN 2041-1723.
11 January 2016
Kalscheuer, V.M. and James, V.M. and Himelright, M.L. and Long, P. and Oegema, R. and Jensen, C. and Bienek, M. and Hu, H. and Haas, S.A. and Topf, Maya and Hoogeboom, A.J.M. and Harvey, K. and Walikonis, R. and Harvey, R.J. (2016) Novel Missense Mutation A789V in IQSEC2 underlies X-Linked intellectual disability in the MRX78 family. Frontiers in Molecular Neuroscience 8 , ISSN 1662-5099.
July 2016
Pilorge, M. and Fassier, C. and Le Corronc, H. and Potey, A. and Bai, J. and De Gois, S. and Delaby, E. and Assouline, B. and Guinchat, V. and Devillard, F. and Delorme, R. and Nygren, G. and Råstam, M. and Meier, J.C. and Otani, S. and Cheval, H. and James, V.M. and Topf, Maya and Dear, T.N. and Gillberg, C. and Leboyer, M. and Giros, B. and Gautron, S. and Hazan, J. and Harvey, R.J. and Legendre, P. and Betancur, C. (2016) Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. Molecular Psychiatry 21 , pp. 936-945. ISSN 1359-4184.
16 August 2017
Schaefer, N. and Berger, A. and van Brederode, J. and Zheng, F. and Zhang, Y. and Leacock, S. and Littau, L. and Jablonka, S. and Malhotra, S. and Topf, Maya and Winter, F. and Davydova, D. and Lynch, J.W. and Paige, C.J. and Alzheimer, C. and Harvey, R.J. and Villmann, C. (2017) Disruption of a structurally important extracellular element in the Glycine Receptor leads to decreased synaptic integration and signaling resulting in Severe Startle Disease. The Journal of Neuroscience 37 (33), pp. 7948-7961. ISSN 0270-6474.
6 March 2018
Fedele, L. and Newcombe, J. and Topf, Maya and Gibb, A. and Harvey, R.J. and Smart, T.G. (2018) Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties. Nature Communications 9 (1), p. 957. ISSN 2041-1723.